Search Results - "Hamrick, Samantha K."

Single Construct Suppression and Replacement Gene Therapy for the Treatment of All CALM1 -, CALM2 -, and CALM3 -Mediated Arrhythmia Disorders by Hamrick, Samantha K, Kim, C S John, Tester, David J, Gencarelli, Manuela, Tobert, Kathryn E, Gluscevic, Martina, Ackerman, Michael J

“…CaM (calmodulin)-mediated long-QT syndrome is a genetic arrhythmia disorder (calmodulinopathies) characterized by a high prevalence of life-threatening…”
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SGK1 inhibition attenuates the action potential duration in reengineered heart cell models of drug-induced QT prolongation by Kim, Maengjo, Sager, Philip T., Tester, David J., Pradhananga, Sabindra, Hamrick, Samantha K., Srinivasan, Dinesh, Das, Saumya, Ackerman, Michael J.

“…Drug-induced QT prolongation (DI-QTP) is a clinical entity in which administration of a human ether-à-go-go–related gene/rapid delayed rectifier potassium…”
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Patient-specific, re-engineered cardiomyocyte model confirms the circumstance-dependent arrhythmia risk associated with the African-specific common SCN5A polymorphism p.S1103Y: Implications for the increased sudden deaths observed in black individuals during the COVID-19 pandemic by Hamrick, Samantha K., John Kim, C.S., Tester, David J., Giudicessi, John R., Ackerman, Michael J.

“…During the early stages of the coronavirus disease 2019 (COVID-19) pandemic, a marked increase in sudden cardiac death (SCD) was observed. The p.S1103Y-SCN5A…”
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SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome by Kim, Maengjo, Das, Saumya, Tester, David J., Pradhananga, Sabindra, Hamrick, Samantha K., Gao, Xiaozhi, Srinivasan, Dinesh, Sager, Philip T., Ackerman, Michael J.

“…Long QT syndrome (LQTS) stems from pathogenic variants in KCNQ1 (LQT1), KCNH2 (LQT2), or SCN5A (LQT3) and is characterized by action potential duration (APD)…”
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Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential by Stutzman, Marissa J., Kim, C.S. John, Tester, David J., Hamrick, Samantha K., Dotzler, Steven M., Giudicessi, John R., Miotto, Marco C., GC, Jeevan B., Frank, Joachim, Marks, Andrew R., Ackerman, Michael J.

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac channelopathy causing ventricular tachycardia following adrenergic stimulation…”
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Promise and Potential Peril With Lumacaftor for the Trafficking Defective Type 2 Long-QT Syndrome-Causative Variants, p.G604S, p.N633S, and p.R685P, Using Patient-Specific Re-Engineered Cardiomyocytes by O’Hare, Bailey J., John Kim, C.S., Hamrick, Samantha K., Ye, Dan, Tester, David J., Ackerman, Michael J.

“…The -encoded Kv11.1 hERG (human ether-a-go-go related gene) potassium channel is a critical regulator of cardiomyocyte action potential duration (APD). The…”
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Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes by Ye, Dan, Zhou, Wei, Hamrick, Samantha K., Tester, David J., Kim, C.S. John, Barajas-Martinez, Hector, Hu, Dan, Giudicessi, John R., Antzelevitch, Charles, Ackerman, Michael J.

“…The transient outward current (Ito) that mediates early (phase 1) repolarization is conducted by the -encoded Kv4.3 pore-forming α-subunit. gain-of-function…”
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Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community by Tester, David J, Bombei, Hannah M, Fitzgerald, Kristi K, Giudicessi, John R, Pitel, Beth A, Thorland, Erik C, Russell, Barbara G, Hamrick, Samantha K, Kim, C S John, Haglund-Turnquist, Carla M, Johnsrude, Christopher L, Atkins, Dianne L, Ochoa Nunez, Luis A, Law, Ian, Temple, Joel, Ackerman, Michael J

“…The exome molecular autopsy may elucidate a pathogenic substrate for sudden unexplained death. To investigate the underlying cause of multiple sudden deaths in…”
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Molecular characterization of the calcium release channel deficiency syndrome by Tester, David J, Kim, C S John, Hamrick, Samantha K, Ye, Dan, O'Hare, Bailey J, Bombei, Hannah M, Fitzgerald, Kristi K, Haglund-Turnquist, Carla M, Atkins, Dianne L, Nunez, Luis A Ochoa, Law, Ian, Temple, Joel, Ackerman, Michael J

“…We identified a potentially novel homozygous duplication involving the promoter region and exons 1-4 of the gene encoding type 2 cardiac ryanodine receptor…”
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Abstract 11976: Functional Characterization of Calcium Handling Kinetics in Patient-Derived Ipsc-Cm Models of Pkp2-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy by Hamrick, Samantha K, Kim, CS John, Gluscevic, Martina, Tester, David J, Ackerman, Michael J

“…IntroductionPathogenic variants in PKP2-encoded plakophilin 2 cause arrhythmogenic right ventricular cardiomyopathy (ARVC). Electrocardiographically,…”
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BS-452757-2 A SINGLE SUPPRESSION AND REPLACEMENT GENE THERAPY FOR ALL THREE CARDIAC CALMODULINOPATHIES by Hamrick, Samantha K., Kim, Changsung J., Tester, David, Tobert, Kathryn E., Gluscevic, Martina, Ackerman, Michael J.

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Abstract 15036: Suppression-Replacement Gene Therapy for CALM1-Mediated Long QT Syndrome by Tobert, Kathryn E, Hamrick, Samantha K, Gluscevic, Martina, Tester, David J, Kim, CS John, Ackerman, Michael J

“…IntroductionCalmodulin (CaM)-mediated long QT syndrome (CaM-LQTS) is a genetic arrhythmia disorder characterized by a high prevalence of life-threatening…”
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Abstract 12634: A Novel in-vitro Patient-Specific Re-Engineered Cardiomyocyte Model of Multifocal Ectopic Purkinje-Related Premature Contractions by Gao, Xiaozhi, Ye, Dan, Zhou, Wei, Hamrick, Samantha K, Kim, Changsung, Tester, David J, Giudicessi, John, Ackerman, Michael J

“…IntroductionMultifocal ectopic Purkinje-related premature contractions (MEPPC), the most recent addition to the spectrum of SCN5A-mediated cardiac…”
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Abstract 10986: SGK1 Inhibition Attenuated the Action Potential Duration In-Patient and Genotype-Specific Re-Engineered Heart Cells With Congenital Long QT Syndrome by Tester, David J, Das, Saumya, Kim, Maengjo, Pradhananga, Sabindra, Hamrick, Samantha K, Srinivasan, Dinesh, Sager, Philip, Ackerman, Michael J

“…BackgroundLong QT syndrome (LQTS) often stems from pathogenic variants in KCNQ1 (LQT1), KCNH2 (LQT2), or SCN5A (LQT3) and is characterized cellularly by…”
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Abstract 11027: SGK1 Inhibition and Attenuation of the Action Potential Duration in Re-Engineered Heart Cell Models of Drug-Induced QT Prolongation by Tester, David J, Sager, Philip T, Kim, Maengjo, Pradhananga, Sabindra, Hamrick, Samantha K, Srinivasan, Dinesh, Das, Saumya, Ackerman, Michael J

“…BackgroundDrug-induced QT prolongation (DI-QTP) is a clinical entity in which administration of a HERG/IKr blocker such as dofetilide prolongs the cardiac…”
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Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3-Encoded Kv4.3 Gain-of-Function-Associated by Ye, Dan, Zhou, Wei, Hamrick, Samantha K., Tester, David J., Kim, C.S. John, Barajas-Martinez, Hector, Hu, Dan, Giudicessi, John R., Antzelevitch, Charles, Ackerman, Michael J.

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B-PO01-007 THE EFFICACY OF MEXILETINE TREATMENT IN PATIENT-SPECIFIC RE-ENGINEERED CARDIOMYOCYTE MODELS OF LONG QT SYNDROME TYPE 1, 2, AND 3 by Gao, Xiaozhi, Kim, Maengjo, Zhou, Wei, Hamrick, Samantha K., John Kim, Changsung, Tester, David, Ackerman, Michael John

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PO-705-07 A NOVEL RYR2 CHANNEL STABILIZER EFFECTIVELY RESCUES CALCIUM HANDLING KINETICS ASSOCIATED WITH CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA IN PATIENT-SPECIFIC INDUCED PLURIPOTENT STEM CELL-DERIVED CARDIOMYOCYTES by Stutzman, Marissa Joy, Kim, Changsung John, Tester, David J., Hamrick, Samantha K., Marcantonio, Eugene, MIOTTO, Marco, Marks, Andrew, Ackerman, Michael John

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B-PO04-001 CHARACTERIZATION OF EXTREME N-TERMINAL RYR2 VARIANTS FOUND OUTSIDE CPVT1 VARIANT CLUSTER REGIONS SHOW CA2+ HANDLING ABNORMALITIES CONSISTENT WITH CLASSICAL CPVT by Stutzman, Marissa Joy, Kim, Changsung John, Hamrick, Samantha K., Clemens, Daniel J., Dotzler, Steven Michael, Ye, Dan, Tester, David, Ackerman, Michael John

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PO-615-05 ACACETIN, A POTENT TRANSIENT OUTWARD CURRENT BLOCKER, MAY BE A NOVEL THERAPEUTIC FOR KCND3-ENCODED KV4.3 GAIN-OF-FUNCTION-ASSOCIATED J-WAVE SYNDROMES by Ye, Dan, Zhou, Wei, Hamrick, Samantha K., Tester, David, Kim, Changsung John, Barajas-Martinez, Hector M., Hu, Dan, Giudicessi, John R., Antzelevitch, Charles, Ackerman, Michael John

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